ETL3
MCID: EPL128
MIFTS: 28

Epilepsy, Familial Temporal Lobe, 3 (ETL3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 3

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 3:

Name: Epilepsy, Familial Temporal Lobe, 3 57
Epilepsy, Familial Mesial Temporal Lobe 57 13 72
Familial Temporal Lobe Epilepsy 3 12 15
Fmtle 57 12
Epilepsy, Familial Mesial Temporal Lobe; Fmtle 57
Familial Mesial Temporal Lobe Epilepsy 12
Etl3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
relatively benign course
onset usually in second decade
genetic heterogeneity (see etl2, )


HPO:

32
epilepsy, familial temporal lobe, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0060750
MedGen 42 C1968848
UMLS 72 C1968848

Summaries for Epilepsy, Familial Temporal Lobe, 3

Disease Ontology : 12 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has material basis in variation in the chromosome region 4q13.2-q21.3.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 3, also known as epilepsy, familial mesial temporal lobe, is related to seizure disorder and focal epilepsy, and has symptoms including dizziness An important gene associated with Epilepsy, Familial Temporal Lobe, 3 is FMTLE (Epilepsy, Familial Mesial Temporal Lobe). Affiliated tissues include temporal lobe, and related phenotypes are vertigo and focal impaired awareness seizure

More information from OMIM: 611630 PS600512

Related Diseases for Epilepsy, Familial Temporal Lobe, 3

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 3:



Diseases related to Epilepsy, Familial Temporal Lobe, 3

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 3

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 3:

32
# Description HPO Frequency HPO Source Accession
1 vertigo 32 HP:0002321
2 focal impaired awareness seizure 32 HP:0002384
3 focal aware seizure 32 HP:0002349
4 deja vu 32 HP:0012005

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dizziness
complex partial seizures
simple partial seizures
no hippocampal sclerosis
deja vu feeling
more

Clinical features from OMIM:

611630

UMLS symptoms related to Epilepsy, Familial Temporal Lobe, 3:


dizziness

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 3

Genetic Tests for Epilepsy, Familial Temporal Lobe, 3

Anatomical Context for Epilepsy, Familial Temporal Lobe, 3

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 3:

41
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 3

Articles related to Epilepsy, Familial Temporal Lobe, 3:

(show all 20)
# Title Authors PMID Year
1
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. 38 8
17377072 2007
2
Familial mesial temporal lobe epilepsy and the borderland of déjà vu. 38
28681459 2017
3
DEPDC5-Related Epilepsy 38
27683934 2016
4
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. 38
26216793 2015
5
Longitudinal analysis of hippocampal T2 relaxometry in FMTLE. 38
24926943 2014
6
A new locus for familial temporal lobe epilepsy on chromosome 3q. 38
24021842 2013
7
MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy. 38
23197748 2012
8
Longitudinal MRI volumetric evaluation in patients with familial mesial temporal lobe epilepsy. 38
21431086 2011
9
Familial mesial temporal lobe epilepsies: clinical and genetic features. 38
19469849 2009
10
Mesial temporal lobe epilepsy: clinical and neuropathologic findings of familial and sporadic forms. 38
18294201 2008
11
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families. 38
18004642 2008
12
Linkage study of voltage-gated potassium channels in familial mesial temporal lobe epilepsy. 38
17420821 2007
13
THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy. 38
16914293 2006
14
Genetic focal epilepsies: state of the art and paths to the future. 38
16359475 2005
15
Evidence of memory impairment in asymptomatic individuals with hippocampal atrophy. 38
15582848 2004
16
Structural abnormalities are similar in familial and nonfamilial mesial temporal lobe epilepsy. 38
15376482 2004
17
Abnormalities of hippocampal signal intensity in patients with familial mesial temporal lobe epilepsy. 38
15264025 2004
18
Outcome of surgical treatment in familial mesial temporal lobe epilepsy. 38
12887440 2003
19
Hippocampal atrophy and T2-weighted signal changes in familial mesial temporal lobe epilepsy. 38
12578919 2003
20
Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic, first-degree relatives of patients with familial mesial temporal lobe epilepsy. 38
12470176 2002

Variations for Epilepsy, Familial Temporal Lobe, 3

Expression for Epilepsy, Familial Temporal Lobe, 3

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 3.

Pathways for Epilepsy, Familial Temporal Lobe, 3

GO Terms for Epilepsy, Familial Temporal Lobe, 3

Cellular components related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.33 SNCA SCN2A KCNAB1
2 glutamatergic synapse GO:0098978 9.13 SCN2A NLGN1 LGI1
3 rough endoplasmic reticulum GO:0005791 8.62 SNCA CA4

Biological processes related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 9.32 SNCA NLGN1
2 synapse organization GO:0050808 9.26 SNCA NLGN1
3 synaptic vesicle endocytosis GO:0048488 9.16 SNCA NLGN1
4 positive regulation of synaptic transmission GO:0050806 8.96 SNCA LGI1
5 synaptic vesicle transport GO:0048489 8.62 SNCA NLGN1

Sources for Epilepsy, Familial Temporal Lobe, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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